Canonical Allele Identifier: CA136894596

Gene: CYP21A2

Linked Data

• dbSNP Id: rs924892425
• gnomAD v2: 6-32007697-T-C
• gnomAD v3: 6-32039920-T-C
• gnomAD v4: 6-32039920-T-C
• MyVariant Identifiers: chr6:g.32007697T>C (hg19) ; chr6:g.32039920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039920T>C , CM000668.2:g.32039920T>C	GRCh38
NC_000006.11:g.32007697T>C , CM000668.1:g.32007697T>C	GRCh37
NC_000006.10:g.32115676T>C	NCBI36
NG_007941.2:g.6613T>C
NG_008337.2:g.74455A>G
NG_007941.3:g.6616T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.739-85T>C MANE Select	ENSP00000496625.1:n.739-85T>C
ENST00000418967.6:c.739-85T>C	ENSP00000408860.2:n.739-85T>C
ENST00000435122.3:c.649-85T>C	ENSP00000415043.2:n.649-85T>C
ENST00000462278.1:n.512T>C
ENST00000479074.5:n.797-85T>C
ENST00000479730.5:n.855-85T>C
ENST00000483041.5:n.908-85T>C
ENST00000486063.5:n.918+85T>C
NM_000500.7:c.739-85T>C	NP_000491.4:n.739-85T>C
NM_001128590.3:c.649-85T>C	NP_001122062.3:n.649-85T>C
XM_011514314.1:c.334-85T>C	XP_011512616.1:n.334-85T>C
NM_000500.9:c.739-85T>C MANE Select	NP_000491.4:n.739-85T>C
NM_001368143.1:c.334-85T>C	NP_001355072.1:n.334-85T>C
NM_001368144.1:c.334-85T>C	NP_001355073.1:n.334-85T>C
NM_001128590.4:c.649-85T>C	NP_001122062.3:n.649-85T>C
NM_001368143.2:c.334-85T>C	NP_001355072.1:n.334-85T>C
NM_001368144.2:c.334-85T>C	NP_001355073.1:n.334-85T>C